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Lecom pathology year 2 > Chapter 5- Genetic Disorders > Flashcards

Chapter 5- Genetic Disorders Flashcards

1
Q

What is a common example of trinucleotide repeat mutation

A

Fragile X syndrome

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2
Q

What is the mutation in most autosomal dominant disorders

A

Loss of function mutation

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3
Q

What is an example of a urinary autosomal dominant disorder

A

Polycystic kidney disease

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4
Q

What is an example of GI autosomal dominant disorder

A

Familial polypoid coli

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5
Q

What is the largest category of Mendelian disorders

A

Autosomal recessive

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6
Q

What should you think about if there is an autosomal recessive disorder that is rare

A

Consanguinity

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7
Q

What is an example of an X-linked dominant disorder

A

Vitamin D resistant rickets

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8
Q

What antimalarial drug administered to someone with G6PD deficiency can lead to hemolytic anemia

A

Primaquine

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9
Q

What is the mutation in tay Sachs disease

A

Hexosaminidase

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10
Q

What is defective in Marfan syndrome

A

Fibrillin-1 (FBN-1 gene)

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11
Q

What type if murmur is most common with Marfan syndrome

A

Mitral regurgitation

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12
Q

What is the mainstay treatment for Marfan syndrome

A

Beta blockers

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13
Q

What is the most common type of Ehlers-danlos syndrome

A

Kyphoscoliosis

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14
Q

What is the gene defect in classic Ehlers-danlos syndrome

A

COL5A1, COL5A2

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15
Q

What is the clinical findings with classic Ehlers-danlos syndrome

A

Skin and joint hypermobility, atrophic scars, easy bruising

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16
Q

What are the clinical findings with hypermobility (III) Ehlers-danlos syndrome

A

Joint hypermobility, pain, dislocations

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17
Q

What is the defect in vascular (IV) Ehlers-danlos syndrome

A

COL3A1

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18
Q

What is the clinical findings associated with Ehlers-danlos syndrome vascular type (IV)

A

Thin skin, arterial or uterine rupture, brushing, small joint hyperextensibility

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19
Q

What is the defect seen with kyphoscoliosis Ehlers-danlos syndrome

A

Lysyl hydroxylase

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20
Q

What is the clinical findings associated with kyphoscoliosis Ehlers-danlos syndrome

A

Hypotonia, joint laxity, congenital scoliosis, ocular fragility

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21
Q

What is the defect with arthrochalasia Ehlers-danlos syndrome

A

COL1A1, COL1A2

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22
Q

What is the clinical findings associated with arthrocholasia Ehlers-danlos syndrome

A

Severe joint hypermobility, skin changes (Mild), scoliosis, bruising

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23
Q

What is the defect with dermatosparaxis Ehlers-danlos syndrome

A

Procollagen N-peptidase

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24
Q

What are the clinical findings associated with dermatosparaxis Ehlers-danlos syndrome

A

Severe skin fragility, cutis laxa, bruising

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25
Q

Describe class 2 mutation in gene encoding receptor for LDL

A

Receptor proteins accumulate in ER and cannot be transported to golgi complex

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26
Q

Describe class 1 mutation in gene encoding receptor for LDL

A

Complete failure of synthesis of receptor protein

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27
Q

Describe class 3 mutation in gene encoding receptor for LDL

A

LDL binding domain of the receptor affected

28
Q

Describe class 4 mutation in gene encoding receptor for LDL

A

Bound LDL is not internalized (encode proteins that are synthesized and transported to the cell surface efficiently, but fault to localize in coated pits_

29
Q

Describe class 5 mutation in gene encoding receptor for LDL

A

Ph dependent dissociation of receptor and bound LDL fails

30
Q

Who is Tay Sachs particularly common in

31
Q

What dominates the picture of Tay Sachs disease

A

Involvement of neurons in CNS and ANS and retinal

32
Q

What lysosomal storage disorder is associated with cherry red spot macula

33
Q

What is deficient in sandhoff

A

Hexosaminidase beta subunit

34
Q

What type of mutation is in Norman pick disease type A

A

Missense mutation

35
Q

What should you think of with zebra bodies

A

Type A Neiman pick disease

36
Q

What is the clinical picture with Type A Neimann-pick disease

A

Progressive failure to thrive, vomiting, fever, generalized lymphadenopathy

37
Q

What is responsible for 95% of cases of Type C Niemann pick disease

38
Q

What is the common presentation of type C Niemann pick disease

A

Marked ataxia, vertical supranuclear gaze palsy, dystopia, dysarthria & psychomotor regression; may have neonatal hepatitis

39
Q

What is the issue with gaucher disease

A

Mutation in gene encoding glucocerebrosidase

40
Q

What is the most common lysosomal storage disorder

A

Gaucher disease

41
Q

Where does the glucocerebroside in gaucher disease accumulate

42
Q

What are some common findings with type 1 gaucher disease

A

Predilection for Jews; pancytopenia, thrombocytopenia (secondary to hypersplenomegaly); pathology fractures or bone pain

43
Q

What is the only mucopolyaccharidoses that is NOT AR

A

Hunter syndrome (X-linked recessive)

44
Q

What does hurler syndrome result from deficiency of

A

Alpha-1 iduronidase

45
Q

What disease is associated with deficiency of muscle phosphorylase

A

McCardle disease

46
Q

What are the clinical features associated with velocardiofacial syndrome

A

Facial dysmorphism, cleft palate, CVS anomalies, learning disabilities

47
Q

What psychiatric disorder are individuals with DiGeorge and velocardiofacial syndrome more likely to develop

A

Schizophrenia

48
Q

What are the 2 most common things seen in Klinefelter syndrome

A

Reduced spermatogenesis and male infertility

49
Q

What is the most important cause of increased mortality in kids with Turner syndrome

A

Cardiovascular disease

50
Q

What is the protein issue with spinobulbar muscular atrophy (Kennedy syndrome)

A

Androgen receptor

51
Q

What is the issue with dentarubral-pallidoluysian atrophy (Haw river syndrome)

A

Atrophin-1

52
Q

What is the most common phenotypic finding with fragile X syndrome

A

Macro-orchidism

53
Q

What repeats are increased in fragile X syndrome

54
Q

What is fragile X tremor/ataxia characterized by

A

Intention tremor, cerebellar ataxia and may progress to Parkinsonism

55
Q

What is the prototype of mitochondrial inheritance disorder

A

Leber hereditary optic neuropathy

56
Q

What organs does leber hereditary optic neuropathy have the most effect

A

Those dependent on ox phos (CNS, skeletal muscle, cardiac muscle, liver and kidney)

57
Q

What is deleted in angelman syndrome

A

Maternally derived chromosome 15

58
Q

What is deleted in prader willi

A

Paternally derived Chromosome 15

59
Q

What gene is implicated in angelman syndrome

A

UBE3A (ubiquitin ligase)

60
Q

When is pyrosequencing most often used

A

When testing for particular sequence variant

61
Q

She is southern blotting most useful

A

In detection of certain large trinucleotide expansion diseases

62
Q

When are SNPs used

A

In linkage analysis for identifying haplotypes associated with disease

63
Q

When are minisatellites and microsatellites routinely used

A

For paternity tests and criminal investigations

64
Q

What is deficient in Von Gierke?

A

Glucose-6-phosphatase

65
Q

What is deficient in Pompe?

A

acid maltase (a-glucosidase)

66
Q

Diseases at increased risk with Down’s Syndrome

A
  1. Acute leukemia
  2. Alzheimers
  3. Congenital heart defects
  4. Infections

Lecom pathology year 2 (18 decks)

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